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Details on Person 3-Methylcrotonyl-CoA carboxylase 1 deficiency

Class:Id	Disease:9908651
_displayName	3-Methylcrotonyl-CoA carboxylase 1 deficiency
_timestamp	2024-04-22 20:47:24
created	[InstanceEdit:9908650] Rothfels, Karen, 2024-04-22
definition	A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the alpha subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 3q27.
identifier	0080579
name	3-Methylcrotonyl-CoA carboxylase 1 deficiency
referenceDatabase	[ReferenceDatabase:1247631] DOID
(disease)	[EntityWithAccessionedSequence:9908652] D532H Btn-MCCC1 [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9908657] I460M Btn-MCCC1 [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9908666] L437P Btn-MCCC1 [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9908669] M325R Btn-MCCC1 [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9908676] R385S Btn-MCCC1 [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9908680] S535F Btn-MCCC1 [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9908683] V694* Btn-MCCC1 [mitochondrial matrix] [Homo sapiens] [Complex:9914214] 6x(Btn-MCCC1 mutants:MCCC2) [mitochondrial matrix] [Homo sapiens] [DefinedSet:9914215] Btn-MCCC1 mutants [mitochondrial matrix] [Homo sapiens] [Pathway:9909438] 3-Methylcrotonyl-CoA carboxylase deficiency [Homo sapiens] List all 11 refering instances
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No pathways have been reviewed or authored by 3-Methylcrotonyl-CoA carboxylase 1 deficiency (9908651)